Annotation Detail
Information
- Associated Genes
- SLC45A2
- Associated Variants
-
SLC45A2 p.Leu374Phe (p.L374F)
(
ENST00000296589.9,
ENST00000382102.7,
ENST00000509381.1 )
SLC45A2 p.Leu374Phe (p.L374F) ( ENST00000296589.9, ENST00000382102.7, ENST00000509381.1 ) - Associated Disease
- Albinism, Oculocutaneous
- Source Database
- DisGeNET
- Description
- The present study analyzed the effects of two human MATP mutations, D93N, which causes oculocutaneous albinism 4 (OCA4), and L374F, which is correlated with light pigmentation in European populations.
- Pubmed
- 25760657
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.0326861525630036
- Year of publication
- 2015
Drugs